Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.L212Q
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SCN5A

NM_000335.5:p.L212Q

Associated Papers

Recognizing Pathogenic PVCs in Children: A Case of Multifocal Ectopic Purkinje-Related Premature Contractions.

McLendon L et al.

Case Reports in Pediatrics, 2026

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD et al.

Heart Rhythm, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."